Incidental Mutation 'R4592:Casp12'
ID342907
Institutional Source Beutler Lab
Gene Symbol Casp12
Ensembl Gene ENSMUSG00000025887
Gene Namecaspase 12
Synonyms
MMRRC Submission 041808-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4592 (G1)
Quality Score225
Status Validated
Chromosome9
Chromosomal Location5345430-5373032 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 5352923 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121565 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027009] [ENSMUST00000151332] [ENSMUST00000151788]
Predicted Effect probably benign
Transcript: ENSMUST00000027009
SMART Domains Protein: ENSMUSP00000027009
Gene: ENSMUSG00000025887

DomainStartEndE-ValueType
CARD 1 83 3.54e-2 SMART
CASc 165 417 2.59e-132 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149520
Predicted Effect probably benign
Transcript: ENSMUST00000151332
SMART Domains Protein: ENSMUSP00000122201
Gene: ENSMUSG00000025887

DomainStartEndE-ValueType
CASc 95 347 2.59e-132 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000151788
SMART Domains Protein: ENSMUSP00000121565
Gene: ENSMUSG00000025887

DomainStartEndE-ValueType
CARD 1 83 3.54e-2 SMART
Pfam:Peptidase_C14 176 230 1.1e-8 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 98% (64/65)
MGI Phenotype PHENOTYPE: Homozygous mice for some mutations of this gene display resistance to ER stress-induced apoptosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001P01Rik A G 11: 97,771,615 S144P probably damaging Het
4933430I17Rik T A 4: 62,538,927 V161E possibly damaging Het
Arhgap40 T C 2: 158,546,709 V521A possibly damaging Het
Atrn T C 2: 130,999,130 probably benign Het
Ccdc189 C T 7: 127,585,491 R172H probably benign Het
Cenpf G A 1: 189,679,033 T318M probably damaging Het
Clcn2 T C 16: 20,709,142 K525E probably damaging Het
Cntln A G 4: 84,971,182 T301A probably benign Het
Crat T C 2: 30,415,366 probably benign Het
Cul5 A G 9: 53,633,727 probably benign Het
Cxcl14 A T 13: 56,295,895 I34N probably damaging Het
Cyp2b19 A G 7: 26,771,394 I487V probably benign Het
Cyp4a10 T A 4: 115,529,493 F446I probably damaging Het
D430041D05Rik T A 2: 104,233,479 M659L possibly damaging Het
Dclk3 T C 9: 111,467,895 F169S probably damaging Het
Ddx52 T C 11: 83,957,480 I532T probably damaging Het
Dnm1 T C 2: 32,336,011 D352G probably damaging Het
Eif4g2 T C 7: 111,078,302 E174G probably damaging Het
Enpp6 G T 8: 47,093,032 V386L probably damaging Het
Eps15l1 T C 8: 72,341,394 D904G probably damaging Het
Esrrb A G 12: 86,518,830 Y356C probably damaging Het
Flt3 A T 5: 147,354,699 S619T possibly damaging Het
Fndc7 A T 3: 108,858,902 C716S probably damaging Het
Gm10125 T C 18: 5,525,375 noncoding transcript Het
Gm26996 T A 6: 130,579,485 noncoding transcript Het
Grik2 A T 10: 49,422,615 F50I possibly damaging Het
Guf1 T C 5: 69,566,443 V367A possibly damaging Het
Hspg2 C T 4: 137,518,940 R1010C probably damaging Het
Ifnar2 T C 16: 91,391,796 V55A probably benign Het
Impg1 T A 9: 80,440,854 I33F probably benign Het
Ltbp4 A C 7: 27,325,183 V674G probably damaging Het
Mroh2b T A 15: 4,918,290 L529H probably damaging Het
Negr1 T C 3: 157,208,386 probably benign Het
Neurog3 A G 10: 62,133,820 T25A probably damaging Het
Olfr1241 T A 2: 89,482,756 K126N probably damaging Het
Olfr1420 T C 19: 11,896,762 V247A probably benign Het
Olfr181 T C 16: 58,926,092 T160A probably benign Het
Olfr555 A C 7: 102,659,478 Y219S probably damaging Het
Pax8 T A 2: 24,443,189 probably benign Het
Pcsk6 A C 7: 65,931,732 I254L possibly damaging Het
Pde3a A G 6: 141,459,216 K389R probably benign Het
Rab3gap1 C A 1: 127,925,259 probably benign Het
Rbck1 G A 2: 152,318,733 Q428* probably null Het
Rptor A G 11: 119,798,840 D321G probably null Het
Sall2 C A 14: 52,313,803 R643L probably damaging Het
Sdccag3 C A 2: 26,388,897 probably benign Het
Skp1a T C 11: 52,243,619 I59T possibly damaging Het
Slc23a3 T G 1: 75,128,556 N456T probably damaging Het
Slc4a7 G A 14: 14,778,850 G920S probably damaging Het
Smarcd3 T C 5: 24,592,804 I467V probably benign Het
Spata31d1c C T 13: 65,036,060 A472V probably damaging Het
Srsf6 T C 2: 162,931,723 I18T probably damaging Het
Stom C T 2: 35,323,746 G80D probably damaging Het
Svep1 A T 4: 58,084,028 Y1915N possibly damaging Het
Tmf1 C T 6: 97,173,400 V449I probably benign Het
Triobp C T 15: 78,967,095 A483V probably benign Het
Vdac1 G A 11: 52,374,972 probably null Het
Vmn2r75 T G 7: 86,166,286 E123D probably benign Het
Vmn2r79 T A 7: 87,004,111 V528D possibly damaging Het
Zdbf2 T G 1: 63,306,591 N1376K possibly damaging Het
Other mutations in Casp12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00667:Casp12 APN 9 5352665 splice site probably null
IGL00717:Casp12 APN 9 5352702 missense probably damaging 1.00
IGL02326:Casp12 APN 9 5358317 missense possibly damaging 0.92
R0016:Casp12 UTSW 9 5352844 missense probably null 0.01
R0016:Casp12 UTSW 9 5352844 missense probably null 0.01
R0329:Casp12 UTSW 9 5345534 splice site probably benign
R0392:Casp12 UTSW 9 5348973 splice site probably benign
R0584:Casp12 UTSW 9 5352268 missense probably null 0.00
R0609:Casp12 UTSW 9 5346554 missense probably damaging 1.00
R1099:Casp12 UTSW 9 5352204 missense probably benign
R1951:Casp12 UTSW 9 5348959 critical splice donor site probably null
R2034:Casp12 UTSW 9 5346491 missense probably damaging 0.97
R4208:Casp12 UTSW 9 5346629 missense probably damaging 1.00
R4558:Casp12 UTSW 9 5352742 missense probably damaging 1.00
R4597:Casp12 UTSW 9 5348941 missense possibly damaging 0.55
R4913:Casp12 UTSW 9 5358726 missense probably damaging 1.00
R4965:Casp12 UTSW 9 5352250 missense probably benign 0.00
R5495:Casp12 UTSW 9 5353797 missense possibly damaging 0.95
R5777:Casp12 UTSW 9 5354548 missense probably benign 0.01
R6641:Casp12 UTSW 9 5354612 missense probably benign
R7159:Casp12 UTSW 9 5353763 missense possibly damaging 0.89
R7320:Casp12 UTSW 9 5348897 critical splice acceptor site probably null
R7349:Casp12 UTSW 9 5345527 critical splice donor site probably null
Z1088:Casp12 UTSW 9 5354582 missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- AACACGTCTGGCTCTCATCATC -3'
(R):5'- TTCAAGGCTCAGAGTTTATGTGTC -3'

Sequencing Primer
(F):5'- TGGCTCTCATCATCTGCAACAAAAAG -3'
(R):5'- AGGCTCAGAGTTTATGTGTCTCTTAG -3'
Posted On2015-09-24